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Neurogenetics

Showing results (191-200 of 1,080) with videos related to

Pageof 108
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Neurogenetics|November 15, 2021
Fatal status epilepticus: the broad phenotypic heterogeneity of NARS2 variantsJ Finsterer
Neurogenetics|December 1, 2021
NOTCH3 mutations in a cohort of Portuguese patients within CADASIL spectrum phenotypeMaria Rosário Almeida, Inês Elias, Carolina Fernandes, et al.
Neurogenetics|October 3, 2022
A novel biallelic variant further delineates PRDX3-related autosomal recessive cerebellar ataxiaMisbahuddin M Rafeeq, Muhammad Umair, Muhammad Bilal, et al.
Neurogenetics|January 31, 2022
Novel biallelic variants in NRROS associated with a lethal microgliopathy, brain calcifications, and neurodegenerationJulia Macintosh, Alexa Derksen, Chantal Poulin, et al.
Neurogenetics|May 17, 2019
A novel CSF-1R mutation in a family with hereditary diffuse leukoencephalopathy with axonal spheroids misdiagnosed as hydrocephalusMiaomiao Wang, Xinqing Zhang
Neurogenetics|January 19, 2010
Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophyLuis E Kolb, Zulfikar Arlier, Cengiz Yalcinkaya, et al.
Neurogenetics|April 6, 2023
Sub-region analysis of DMD gene in cases with idiopathic generalized epilepsyZhi-Jian Lin, Bi-Xia Huang, Li-Fang Su, et al.
Neurogenetics|August 8, 2020
Distal myopathy due to TCAP variants in four unrelated Chinese patientsXiaoqing Lv, Fei Gao, Tingjun Dai, et al.
Neurogenetics|April 3, 2021
Multi-system neurological disorder associated with a CRYAB variantMenachem Sadeh, Dolev Rahat, Vardiella Meiner, et al.
Neurogenetics|September 25, 2012
Refining the phenotype associated with MEF2C point mutationsThierry Bienvenu, Bertrand Diebold, Jamel Chelly, et al.
Pageof 108

Showing results (191-200 of 1,080) with videos related to

Sort By:
Pageof 108
Neurogenetics|November 15, 2021
Fatal status epilepticus: the broad phenotypic heterogeneity of NARS2 variantsJ Finsterer
Neurogenetics|December 1, 2021
NOTCH3 mutations in a cohort of Portuguese patients within CADASIL spectrum phenotypeMaria Rosário Almeida, Inês Elias, Carolina Fernandes, et al.
Neurogenetics|October 3, 2022
A novel biallelic variant further delineates PRDX3-related autosomal recessive cerebellar ataxiaMisbahuddin M Rafeeq, Muhammad Umair, Muhammad Bilal, et al.
Neurogenetics|January 31, 2022
Novel biallelic variants in NRROS associated with a lethal microgliopathy, brain calcifications, and neurodegenerationJulia Macintosh, Alexa Derksen, Chantal Poulin, et al.
Neurogenetics|May 17, 2019
A novel CSF-1R mutation in a family with hereditary diffuse leukoencephalopathy with axonal spheroids misdiagnosed as hydrocephalusMiaomiao Wang, Xinqing Zhang
Neurogenetics|January 19, 2010
Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophyLuis E Kolb, Zulfikar Arlier, Cengiz Yalcinkaya, et al.
Neurogenetics|April 6, 2023
Sub-region analysis of DMD gene in cases with idiopathic generalized epilepsyZhi-Jian Lin, Bi-Xia Huang, Li-Fang Su, et al.
Neurogenetics|August 8, 2020
Distal myopathy due to TCAP variants in four unrelated Chinese patientsXiaoqing Lv, Fei Gao, Tingjun Dai, et al.
Neurogenetics|April 3, 2021
Multi-system neurological disorder associated with a CRYAB variantMenachem Sadeh, Dolev Rahat, Vardiella Meiner, et al.
Neurogenetics|September 25, 2012
Refining the phenotype associated with MEF2C point mutationsThierry Bienvenu, Bertrand Diebold, Jamel Chelly, et al.
Pageof 108